Announcing Groundbreaking Research Collaboration with Genome Insight, Inc. for Patients with Adolescent Idiopathic Scoliosis

Project aims to unravel the genetic etiology of adolescent idiopathic scoliosis (AIS) by leveraging Genome Insight’s whole-genome sequencing analysis and interpretation platform to bridge the knowledge gap, revolutionizing AIS diagnosis, treatment and prevention.

Combining Shriners Children’s clinical expertise with Genome Insight’s advanced genomics capabilities, this collaboration aims to identify key genetic factors, influencing AIS development. The project will analyze genomic data from 100 adolescent patients treated at Shriners Children’s. Utilizing Genome Insight’s state-of-the-art whole-genome sequencing analysis and interpretation platform, the team will examine the complete DNA sequences of these patients. This approach will uncover genetic variants and alterations associated with AIS, providing valuable insights into the complex genetic landscape of AIS. The goal is to develop targeted interventions, personalized treatment approaches, and potential preventive measures.

“This research collaboration holds immense promise in advancing our understanding of adolescent idiopathic scoliosis,” said Erin Connolly-Strong, chief medical science officer, Genome Insight, Inc. “While there have been previous studies that have utilized whole-genome sequencing, this will be the largest whole-genome sequencing of the AIS cohort to date, resulting in more robust data.”

“In a more affordable whole-genome sequencing era, a high performance clinical bioinformatics tool is vital more than ever. Shriners Children’s pediatric research in rare disorders will certainly gain value in combining our efforts with Genome Insight to extract substantial genetic information from large patient cohorts and hopefully harness the treatment of these debilitating disorders” said Kamran Shazand, Ph.D., director of the Shriners Children’s Genomics Institute and principal investigator on this collaboration.

About Genome Insight, Inc.

Genome Insight, Inc. is a global team, with headquarters in San Diego, California. The company was brought to fruition by physicians with a common vision to deliver unparalleled bioinformatics that merges whole-genome and patient data with to deliver first-in-class research and discovery, precision diagnostics and treatments. The company’s mission is to improve how patients are diagnosed and treated, by unlocking the full potential of personalized genomic data.

For more information about Genome Insight, Inc., go to genomeinsight.net.

Contact: Ashley Ozols-Thomas, Shriners Children's | 813-499-4273 | aozols@shrinenet.org.